Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.
Soto-Ospina A et al.
Frontiers in Molecular Biosciences, 2021
Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.
Dunbar LA et al.
Embo Molecular Medicine, 2019
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
Kasuga K et al.
Journal of Human Genetics, 2015
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 2011
Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease.
Wu YY et al.
Journal of Alzheimer's Disease : Jad, 2011
A novel PS1 gene mutation in a large Aboriginal kindred.
Butler R et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2010
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion.
Furuya H et al.
Journal of the Neurological Sciences, 2003